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"count": 220725,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=762",
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{
"created": "2022-09-19T07:27:02.819291+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDX1 was added\ngene: PDX1 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: PDX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDX1 were set to Pancreatic agenesis, MIM# # 260370",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:02.314707+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDSS2 was added\ngene: PDSS2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PDSS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDSS2 were set to Coenzyme Q10 deficiency, primary, 3, MIM#\t614652",
"entity_name": "PDSS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:01.956670+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDSS1 was added\ngene: PDSS1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PDSS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDSS1 were set to Coenzyme Q10 deficiency, primary, 2, MIM#\t614651",
"entity_name": "PDSS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:01.624330+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDHX was added\ngene: PDHX was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDHX were set to Pyruvate dehydrogenase complex deficiency",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:01.295436+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDHA1 was added\ngene: PDHA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase deficiency",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:00.735110+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE4D was added\ngene: PDE4D was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PDE4D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PDE4D were set to Acrodysostosis 2, with or without hormone resistance",
"entity_name": "PDE4D",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:00.416677+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCNT was added\ngene: PCNT was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism type 2",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:27:00.120538+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCDH15 was added\ngene: PCDH15 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCDH15 were set to Usher syndrome",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:59.828178+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCCB was added\ngene: PCCB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCB were set to Propionicacidemia",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:59.544853+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCCA was added\ngene: PCCA was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCA were set to Propionic acidaemia, MIM#606054",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:59.014584+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCBD1 was added\ngene: PCBD1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, MIM#\t264070",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:58.714079+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PC was added\ngene: PC was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PC were set to Pyruvate carboxylase deficiency",
"entity_name": "PC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:58.441652+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX8 was added\ngene: PAX8 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PAX8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PAX8 were set to Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia",
"entity_name": "PAX8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:58.122948+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX6 was added\ngene: PAX6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PAX6 were set to Aniridia",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:57.633175+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAX3 was added\ngene: PAX3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PAX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PAX3 were set to Waardenburg syndrome",
"entity_name": "PAX3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:57.394440+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PANK2 was added\ngene: PANK2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:57.099813+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PALB2 was added\ngene: PALB2 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: PALB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PALB2 were set to 17200671\nPhenotypes for gene: PALB2 were set to Fanconi anemia, complementation group N, MIM# 610832",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:56.798818+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAK3 was added\ngene: PAK3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PAK3 were set to Mental retardation syndrome, X-linked",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:56.296745+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PAH was added\ngene: PAH was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PAH were set to Phenylketonuria, MIM#261600",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:55.998742+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: P2RY12 was added\ngene: P2RY12 was added to gNBS. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: P2RY12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: P2RY12 were set to 29117459; 11196645; 19237732; 12578987\nPhenotypes for gene: P2RY12 were set to Bleeding disorder, platelet-type, 8, MIM# 609821; MONDO:0012354",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:55.697497+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OXCT1 was added\ngene: OXCT1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM#\t245050",
"entity_name": "OXCT1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:55.404092+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTOGL was added\ngene: OTOGL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OTOGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTOGL were set to Deafness, autosomal recessive",
"entity_name": "OTOGL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:55.106466+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTOF was added\ngene: OTOF was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OTOF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTOF were set to Deafness, autosomal recessive",
"entity_name": "OTOF",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:54.624851+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTOA was added\ngene: OTOA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OTOA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTOA were set to Deafness, autosomal recessive",
"entity_name": "OTOA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:54.310721+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OTC was added\ngene: OTC was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, MIM#311250",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:54.026331+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OSTM1 was added\ngene: OSTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OSTM1 were set to Osteopetrosis",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:53.791598+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OSMR was added\ngene: OSMR was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OSMR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: OSMR were set to Amyloidosis, primary cutaneous",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:53.499007+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ORC1 was added\ngene: ORC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC1 were set to Meier-Gorlin syndrome",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:52.994223+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OPA1 was added\ngene: OPA1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: OPA1 were set to Optic atrophy 1",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:52.700959+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OFD1 was added\ngene: OFD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OFD1 were set to Oral-facial-digital syndrome",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:52.422484+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OCRL was added\ngene: OCRL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OCRL were set to Lowe oculocerebrorenal syndrome",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:52.188632+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OCA2 was added\ngene: OCA2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OCA2 were set to Albinism, oculocutaneous",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:51.898140+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OBSL1 was added\ngene: OBSL1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OBSL1 were set to 3-M syndrome",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:51.399869+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NTRK1 was added\ngene: NTRK1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NTRK1 were set to Congenital insensitivity to pain with anhidrosis MIM#256800",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:51.019342+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NSD1 was added\ngene: NSD1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NSD1 were set to Sotos syndrome",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:50.787627+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR5A1 was added\ngene: NR5A1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: NR5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NR5A1 were set to 46, XX sex reversal 4, MIM#\t617480; 46XY sex reversal 3, MIM#\t612965",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:50.493911+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR3C2 was added\ngene: NR3C2 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NR3C2 were set to Pseudohypoaldosteronism type I, autosomal dominant\t, MIM#177735",
"entity_name": "NR3C2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:50.194268+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR0B1 was added\ngene: NR0B1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NR0B1 were set to Congenital adrenal hypoplasia",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:49.644621+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHS1 was added\ngene: NPHS1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHS1 were set to Congenital nephrotic syndrome, Finnish type",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:49.397064+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHP4 was added\ngene: NPHP4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP4 were set to Nephronophthisis",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:49.099729+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHP3 was added\ngene: NPHP3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP3 were set to Nephronophthisis",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:48.807938+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPHP1 was added\ngene: NPHP1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP1 were set to Nephronophthisis",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:48.524546+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPC2 was added\ngene: NPC2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC2 were set to Niemann-Pick disease type C2, MIM#607625",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:48.021099+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NPC1 was added\ngene: NPC1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC1 were set to Niemann-Pick disease type C1, MIM#257220",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:47.795696+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOTCH3 was added\ngene: NOTCH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOTCH3 were set to Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy",
"entity_name": "NOTCH3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:47.511984+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOTCH2 was added\ngene: NOTCH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:47.207550+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOG was added\ngene: NOG was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NOG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NOG were set to Symphalangism, proximal, 1A",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:46.710894+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NNT was added\ngene: NNT was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NNT were set to Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, MIM#\t614736",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:46.488659+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NKX2-1 was added\ngene: NKX2-1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NKX2-1 were set to Choreoathetosis, hypothyroidism, and neonatal respiratory distress",
"entity_name": "NKX2-1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:46.194400+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NIPBL was added\ngene: NIPBL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NIPBL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NIPBL were set to Cornelia de Lange syndrome",
"entity_name": "NIPBL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:45.900083+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NIPAL4 was added\ngene: NIPAL4 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NIPAL4 were set to Ichthyosis, autosomal recessive",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:45.605413+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHLRC1 was added\ngene: NHLRC1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHLRC1 were set to Myoclonic epilepsy of Lafora",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:45.111785+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NHEJ1 was added\ngene: NHEJ1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:44.808573+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NGLY1 was added\ngene: NGLY1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NGLY1 were set to Developmental delay, multifocal epilepsy & abnormal liver function",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:44.591990+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NF2 was added\ngene: NF2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NF2 were set to Neurofibromatosis 2",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:44.301455+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NF1 was added\ngene: NF1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NF1 were set to Neurofibromatosis, type 1",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:44.013622+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEUROG3 was added\ngene: NEUROG3 was added to gNBS. Sources: BeginNGS,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: NEUROG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEUROG3 were set to 32574610; 16855267; 21490072; 28724572\nPhenotypes for gene: NEUROG3 were set to Diarrhoea 4, malabsorptive, congenital, MIM# 610370",
"entity_name": "NEUROG3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:43.517953+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEU1 was added\ngene: NEU1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEU1 were set to Sialidosis",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:43.295009+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK8 was added\ngene: NEK8 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEK8 were set to 26967905; 33131162; 26697755; 23274954; 26862157; 31633649; 23418306\nPhenotypes for gene: NEK8 were set to MONDO:0014174; Renal-hepatic-pancreatic dysplasia 2, MIM# 615415",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:43.007491+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEK1 was added\ngene: NEK1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NEK1 were set to 22499340; 21211617; 28123176; 25492405\nPhenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:42.704297+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEFL was added\ngene: NEFL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NEFL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NEFL were set to Charcot-Marie-Tooth disease",
"entity_name": "NEFL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:42.434595+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NEB was added\ngene: NEB was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEB were set to Nemaline myopathy",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:41.919201+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDP was added\ngene: NDP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NDP were set to Norrie disease",
"entity_name": "NDP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:41.694798+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NCF4 was added\ngene: NCF4 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: NCF4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF4 were set to Chronic granulomatous disease 3, autosomal recessive, MIM#\t613960",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:41.402205+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NCF2 was added\ngene: NCF2 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NCF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF2 were set to Chronic granulomatous disease, MIM#233710",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:41.101607+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NCF1 was added\ngene: NCF1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NCF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NCF1 were set to Chronic granulomatous disease, MIM#233700",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:40.602595+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NBN was added\ngene: NBN was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM#251260",
"entity_name": "NBN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:40.308760+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAGS was added\ngene: NAGS was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NAGS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGS were set to N-acetylglutamate synthetase deficiency, MIM#237310",
"entity_name": "NAGS",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:40.023432+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAGLU was added\ngene: NAGLU was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NAGLU was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGLU were set to Sanfilippo syndrome type B",
"entity_name": "NAGLU",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:39.792528+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NAGA was added\ngene: NAGA was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: NAGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NAGA were set to N-acetylgalactosaminidase alpha deficiency",
"entity_name": "NAGA",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:39.499859+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYSM1 was added\ngene: MYSM1 was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, MIM#\t618116",
"entity_name": "MYSM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:39.211089+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO9A was added\ngene: MYO9A was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic, MIM#\t618198",
"entity_name": "MYO9A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:38.716185+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO7A was added\ngene: MYO7A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYO7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO7A were set to Usher syndrome",
"entity_name": "MYO7A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:38.498754+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO6 was added\ngene: MYO6 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYO6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO6 were set to Deafness",
"entity_name": "MYO6",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:38.207833+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO3A was added\ngene: MYO3A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYO3A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO3A were set to Sensorineural hearing loss",
"entity_name": "MYO3A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:37.991623+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYO15A was added\ngene: MYO15A was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYO15A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYO15A were set to Sensorineural hearing loss",
"entity_name": "MYO15A",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:37.703372+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH9 was added\ngene: MYH9 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH9 were set to Macrothrombocytopenia and progressive sensorineural deafness",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:37.202372+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH7 was added\ngene: MYH7 was added to gNBS. Sources: BabySeq Category B gene,BabySeq Category A gene,Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH7 were set to Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Dilated cardiomyopathy 1S, MONDO:0013262; Hypertrophic cardiomyopathy 1, MONDO:0008647; Laing distal myopathy, OMIM:160500; Left ventricular noncompaction 5, OMIM:613426; Cardiomyopathy, dilated, 1S, OMIM:613426",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:36.901683+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH3 was added\ngene: MYH3 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH3 were set to Arthrogryposis, distal",
"entity_name": "MYH3",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:36.635634+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH2 was added\ngene: MYH2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia",
"entity_name": "MYH2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:36.323847+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYH14 was added\ngene: MYH14 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYH14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH14 were set to Deafness, autosomal dominant",
"entity_name": "MYH14",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:36.093788+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYCN was added\ngene: MYCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MYCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYCN were set to Feingold syndrome",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:35.594632+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MYBPC1 was added\ngene: MYBPC1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: MYBPC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYBPC1 were set to 23873045; 20045868; 22610851; 26661508; 31025394; 31264822\nPhenotypes for gene: MYBPC1 were set to Myopathy, congenital, with tremor MIM#618524; Lethal congenital contracture syndrome 4, MIM# 614915; Arthrogryposis, distal, type 1B 614335",
"entity_name": "MYBPC1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:35.313246+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MVK was added\ngene: MVK was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MVK were set to Hyperimmunoglobulin D and periodic fever syndrome, MIM#610377",
"entity_name": "MVK",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:35.002662+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MUTYH was added\ngene: MUTYH was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MUTYH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUTYH were set to MUTYH-associated polyposis",
"entity_name": "MUTYH",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:34.617363+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Source BabySeq Category A gene was added to MUT.\nAdded phenotypes Methylmalonic aciduria, mut(0) type for gene: MUT",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:34.097790+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MUSK was added\ngene: MUSK was added to gNBS. Sources: BeginNGS:BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MUSK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUSK were set to Congenital myasthenic syndrome, MIM#616325",
"entity_name": "MUSK",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:33.807457+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTTP was added\ngene: MTTP was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTTP were set to Abetalipoproteinaemia",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:33.597558+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTRR was added\ngene: MTRR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTRR were set to Methylmalonic aciduria and homocystinuria, MIM#236270",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:33.309824+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTR was added\ngene: MTR was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MTR were set to Methylmalonic aciduria and homocystinuria, MIM#250940",
"entity_name": "MTR",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:33.024111+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MTM1 was added\ngene: MTM1 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:32.595516+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSX2 was added\ngene: MSX2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MSX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MSX2 were set to Parietal foramina 1",
"entity_name": "MSX2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:32.310301+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MRAP was added\ngene: MRAP was added to gNBS. Sources: BeginNGS,Expert Review Green\nMode of inheritance for gene: MRAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MRAP were set to Glucocorticoid deficiency 2, MIM#\t607398",
"entity_name": "MRAP",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:32.017417+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPZ was added\ngene: MPZ was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MPZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MPZ were set to Charcot-Marie-Tooth disease",
"entity_name": "MPZ",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:31.805373+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPV17 was added\ngene: MPV17 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPV17 were set to Mitochondrial DNA depletion syndrome, hepatic",
"entity_name": "MPV17",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:31.509161+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPL was added\ngene: MPL was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPL were set to Amegakaryocytic thrombocytopaenia, congenital",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:31.005108+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPI was added\ngene: MPI was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPI were set to Congenital disorder of glycosylation 1b",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:30.705941+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MPDU1 was added\ngene: MPDU1 was added to gNBS. Sources: Expert Review Green,BabySeq Category C gene\nMode of inheritance for gene: MPDU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPDU1 were set to 11733564; 11733556; 31741824; 29721919\nPhenotypes for gene: MPDU1 were set to Congenital disorder of glycosylation, type If, MIM# 609180; MPDU1-CDG, MONDO:0012211",
"entity_name": "MPDU1",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:30.487639+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOCS2 was added\ngene: MOCS2 was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2022-09-19T07:26:30.200710+10:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOCS1 was added\ngene: MOCS1 was added to gNBS. Sources: BeginNGS,BabySeq Category A gene,Expert Review Green\nMode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency, MIM#252150",
"entity_name": "MOCS1",
"entity_type": "gene"
}
]
}